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Joshua Spicer Hardin, Yuri Zarate, Bert Callewaert, David Warner; Corneal Findings in Arterial Tortuosity Syndrome. Invest. Ophthalmol. Vis. Sci. 2017;58(8):5661.
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© ARVO (1962-2015); The Authors (2016-present)
Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disease clinically hallmarked by tortuosity, stenosis, and aneurysm development of large and medium sized arteries. Patients carry mutations in the SLC2A10 gene, encoding a facilitative glucose transporter, which causes severe disruption of tissue elastin. Several case reports have noted associated ophthalmic manifestations such as keratoconus, keratoglobus, and myopia without detailed descriptions or standardized examinations. We report the first dedicated case series describing the ophthalmic findings in patients with molecularly confirmed ATS and obligate carriers. We discuss the potential pathophysiologic basis for ocular manifestations in ATS.
Five ATS patients and two carriers (6 children and 1 adult) presented for an ATS specialty clinic at the Arkansas Children’s Hospital in Little Rock, AR. Patients underwent full eye examinations (including corneal pachymetry, topography, and OCT / photos when indicated). One additional carrier (an adult and parent of an ATS patient) submitted eye examination information later, which we have included for completeness.
All five patients with ATS had myopia (Avg. Spherical Equivalent -2.21) and thin corneas (Avg. Central Corneal Thickness 426.8 µm), four had evidence of corneal ectasia, two had early keratoconus, one had keratoglobus with deep stromal corneal opacities, one had bilateral high irregular astigmatism, and one had unilateral high regular astigmatism. Both assessed carriers had myopia and one of them had corneal thinning. The adult carrier, whose exam information was obtained later, developed keratectasia in one eye many years after LASIK eye surgery despite normal post-operative corneal thickness.
We document a spectrum of ophthalmic manifestations of ATS with universal findings of myopia, corneal thinning, and a strong propensity for corneal ectasia leading to keratoconus or keratoglobus. Our data warrants regular eye examinations for all ATS patients with follow-up tailored to clinical findings. Literature review affirms elastin as an important corneal constituent and indicates that lysyl oxidase could bridge the gap between the pathophysiology underlying ATS and its effects on the cornea.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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